%0 Journal Article
%A Caporali, Leonardo
%A Magri, Stefania
%A Legati, Andrea
%A Del Dotto, Valentina
%A Tagliavini, Francesca
%A Balistreri, Francesca
%A Nasca, Alessia
%A La Morgia, Chiara
%A Carbonelli, Michele
%A Valentino, Maria L.
%A Lamantea, Eleonora
%A Baratta, Silvia
%A Schöls, Ludger
%A Schüle, Rebecca
%A Barboni, Piero
%A Cascavilla, Maria L.
%A Maresca, Alessandra
%A Capristo, Mariantonietta
%A Ardissone, Anna
%A Pareyson, Davide
%A Cammarata, Gabriella
%A Melzi, Lisa
%A Zeviani, Massimo
%A Peverelli, Lorenzo
%A Lamperti, Costanza
%A Marzoli, Stefania B.
%A Fang, Mingyan
%A Synofzik, Matthis
%A Ghezzi, Daniele
%A Carelli, Valerio
%A Taroni, Franco
%T ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
%J Annals of neurology
%V 88
%N 1
%@ 1531-8249
%C Hoboken, NJ
%I Wiley-Blackwell
%M DZNE-2020-01239
%P 18 - 32
%D 2020
%X ObjectiveDominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70
%K ATP-Dependent Proteases: genetics
%K ATPases Associated with Diverse Cellular Activities: genetics
%K Adolescent
%K Adult
%K Aged
%K Child
%K Female
%K GTP Phosphohydrolases: genetics
%K Genetic Testing
%K High-Throughput Nucleotide Sequencing
%K Humans
%K Male
%K Middle Aged
%K Mutation
%K Optic Atrophy: genetics
%K Optic Nerve Diseases: genetics
%K Pedigree
%K Exome Sequencing
%K Young Adult
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC7383914
%$ pmid:32219868
%R 10.1002/ana.25723
%U https://pub.dzne.de/record/151660